A world-first treatment for a rare epilepsy
An eight-month-old boy from the New South Wales Central Coast has become the first person in the world to receive a new treatment for a rare and severe form of epilepsy. Bohdi Higginson was diagnosed with KCNT1-related catastrophic epilepsy, an often-fatal genetic disorder for which there was previously no known effective treatment. According to reports from ABC Australia and 7NEWS Australia, only 18 cases have been recorded in Australia.
Bohdi began having seizures at three months old. His mother, Stephanie Higginson, told ABC Australia that his condition deteriorated rapidly, with 74 seizures on his worst day. She described that day as "the worst day of my life." 7NEWS Australia reported that the condition can cause up to 60 seizures per day.
A desperate search for answers
Bohdi was referred to paediatric neurologist Dr Kavitha Kothur at the Children's Hospital at Westmead when he was four months old. Dr Kothur told ABC that his seizures could last several minutes, were unpredictable and frequent, and that conventional medications were not working. She described the toll on the family: "Just seeing a child who was completely well … to a child who is constantly seizing and drowsy on the bed in the intensive care for almost a month."
Dr Kothur and her team identified the genetic change driving Bohdi's epilepsy and a potential treatment that had been developed overseas. The treatment had shown promising results in animal studies but had never been given to a child or epilepsy patient before, ABC reported.
The Innovative Therapies Pathway
The treatment was delivered under the NSW Government's Innovative Therapies Pathway, which aims to provide personalised treatment for children with rare conditions. A multidisciplinary team at the Sydney Children's Hospitals Network assessed the therapy, and Bohdi received his first dose on April 21. His final seizure occurred three days later, according to ABC Australia.
The treatment targets the genetic cause of the condition and helps stop overactive brain currents from triggering seizures. Both ABC and 7NEWS reported that within days of starting the medication, Bohdi's seizures stopped. He no longer requires around-the-clock care, has begun smiling, and has returned home.
Hope for the future
Stephanie Higginson said she will "never be able to thank Dr Kothur enough for what she has done for my family." She added: "She never gave up looking for answers, and she gave us hope when we needed it most. Her work changed our lives. Bohdi's now like a completely different baby." She told ABC that his world-first status was both daunting and special, and she hoped the treatment would become available to other children.
Dr Michelle Lorentzos, Medical Lead for Advanced Therapeutics at Sydney Children's Hospitals Network, said Bohdi's improvement was "quite magnificent" and that "we are entering a new era where highly personalised therapies for ultra-rare diseases are increasingly possible." She added that the pathway could change the lives of hundreds of thousands of children within New South Wales.
Minister for Medical Research David Harris said the breakthrough was an endorsement of the pathway being rolled out across the state and that it "has the potential to become a global model for paediatric rare disease care." He emphasised that precision medicine tailors treatments to individual genetic causes and can be translated rapidly into patient care.
Both ABC and 7NEWS highlighted Dr Kothur's role in leading the research and giving the family hope. The reports convey a sense of optimism about the future of personalised medicine for ultra-rare diseases, with Dr Kothur's persistence and the new pathway seen as key factors in Bohdi's remarkable improvement.